Giusy Calvieri
Rome, Italy
Last Updated: 09/26/2026
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Found 8 publications
Utility of Optical Genome Mapping in the Characterisation of the Global Genomic Architecture of Paediatric Central Nervous System Tumours: A Pilot Study.
Journal: Neuropathology and applied neurobiology
Published: January 29, 2025
Homozygous HESX1 and COL1A1 Gene Variants in a Boy with Growth Hormone Deficiency and Early Onset Osteoporosis.
Journal: International journal of molecular sciences
Published: December 22, 2020
A New Intronic Variant in ECEL1 in Two Patients with Distal Arthrogryposis Type 5D.
Journal: International journal of molecular sciences
Published: December 03, 2020
Congenital heart defects in the recurrent 2q13 deletion syndrome.
Journal: European journal of medical genetics
Published: August 19, 2020
Clinical Application of Easychip 8x15K Platform in 4106 Pregnancies Without Ultrasound Anomalies.
Journal: Reproductive sciences (Thousand Oaks, Calif.)
Published: August 19, 2020
PPP1R21-related syndromic intellectual disability: Report of an adult patient and review.
Journal: American journal of medical genetics. Part A
Published: May 30, 2020
A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndrome.
A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndrome.
Journal: American journal of medical genetics. Part A
Published: December 12, 2018
An additional patient with a homozygous mutation in DCPS contributes to the delination of Al-Raqad syndrome.
Journal: American journal of medical genetics. Part A
Published: May 05, 2018
Showing 1-8 of 8
Last Updated: 09/26/2026